A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278331



Internal ID22274527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:829795..874528hg38UCSC Ensembl
Outerchr6:829795..874528hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg388178
hg198178
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226552
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278331
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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